title: Array-CGH as an adjuvant tool in cytogenetic diagnosis of pediatric MDS and JMML.
abstract: Myelodysplastic syndromes (MDS) and juvenile myelomonocytic leukemia (JMML) are rare clonal hematopoietic diseases presented in the childhood. Both diseases exhibit abnormal karyotype and/or monosomy of chromosome 7 in a subgroup of patients. We screened for copy number variations (CNVs) by array-comparative genomic hybridization (aCHG) the DNA from bone marrow of six MDS and four JMML pediatric patients. Array-CGH analysis identified five cases (50%) with monosomy 7, disclosing the chromosome 7 monosomy in two patients whose samples could not be evaluated by other methods. We identified CNVs in six patients, one of which displayed loss of LMO2, an oncogene that plays a central role in hematopoietic development. Our results suggest that array-CGH is a reliable and accurate technique to identify genomic alterations in MDS and JMML.
authors.affiliation: Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Rua do Matão, 277, São Paulo, 05508-090, Brazil, amandagonc@yahoo.com.
authors.forename: Amanda Gonçalves
authors.initials: AG
authors.lastname: Silva
authors.forename: Mariana
authors.initials: M
authors.lastname: Maschietto
authors.forename: Daniel Onofre
authors.initials: DO
authors.lastname: Vidal
authors.forename: Leandro Mota
authors.initials: LM
authors.lastname: Peliçario
authors.forename: Elvira Deolinda Rodrigues Pereira
authors.initials: ED
authors.lastname: Velloso
authors.forename: Luiz Fernando
authors.initials: LF
authors.lastname: Lopes
authors.forename: Ana Cristina
authors.initials: AC
authors.lastname: Krepischi
authors.forename: Carla
authors.initials: C
authors.lastname: Rosenberg
mesh_terms: D000293:Adolescent; D001853:Bone Marrow / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D055028:Comparative Genomic Hybridization / Q000379:methods; D003582:Cytogenetics / Q000379:methods; D056915:DNA Copy Number Variations / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D054429:Leukemia, Myelomonocytic, Juvenile / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D009190:Myelodysplastic Syndromes / Q000175:diagnosis* / Q000235:genetics*